Landmark gene editing creates a medicine made for just one patient
CRISPR technology has shown strong results treating a baby with a life-threatening liver cell mutation, with scientists saying it is the first documented use of…
Tag: Genetics
Case reports: Mitochondrial disease uncovered
Meet three very different patients and learn how to manage their symptoms based on the patient care standards
‘Don’t be scared to treat mitochondrial disease’
First Australian consensus statement for managing complex group of genetic disorders
A GP guide to newborn bloodspot screening
Need to know: Newborn bloodspot screening is a funded program offered to all Australian babies that aims to save brains and lives. Which conditions will…
Parenthood and the three-gene screen
Reproductive genetic carrier screening (RGCS) aims to identify couples of reproductive age who have a high chance of having children with severe or life-threatening inherited…
‘My message to all clinicians is that delayed diagnosis can be devastating’: Endocrinologist on rare bone diseases
The endocrinologist warns that patients are missing out on innovative treatments
Spot Dx — Do these brown rings catch your eye?
Sera is a 35-year-old receptionist whose optometrist has recommended she see her GP regarding corneal lesions. Test your clinical know-how by taking the quiz below.…
Genomic testing in primary care
Genomic testing describes the assessment of genetic information across multiple genes, all of which, together or separately, can provide information about an individual’s health. Genomic…
Are you familiar with the newer therapies to treat XLH?
Take a minute to fill in this questionnaire for the chance win a Visa gift card
Patient’s spinal fracture leads to GP diagnosis of rare genetic disorder
An unusual spinal fracture led GP Dr John Manton to uncover a rare genetic disorder that would have probably gone undiagnosed without him. His patient…
